rs104894366

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	7	Noonan syndrome
(C;T)	7	Noonan syndrome

Make rs104894366(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

25245284

Gene

KRAS

is a	snp
is	mentioned by
dbSNP	rs104894366
dbSNP (classic)	rs104894366
ClinGen	rs104894366
ebi	rs104894366
HLI	rs104894366
Exac	rs104894366
Gnomad	rs104894366
Varsome	rs104894366
LitVar	rs104894366
Map	rs104894366
PheGenI	rs104894366
Biobank	rs104894366
1000 genomes	rs104894366
hgdp	rs104894366
ensembl	rs104894366
geneview	rs104894366
scholar	rs104894366
google	rs104894366
pharmgkb	rs104894366
gwascentral	rs104894366
openSNP	rs104894366
23andMe	rs104894366
SNPshot	rs104894366
SNPdbe	rs104894366
MSV3d	rs104894366
GWAS Ctlg	rs104894366

Max Magnitude

7

aka c.101C>T (p.Pro34Leu) and also c.101C>G (p.Pro34Arg)

OMIM	190070
Desc
Variant	0013
Related	also

ClinVar
Risk	rs104894366(G;G) rs104894366(T;T)
Alt	rs104894366(G;G) rs104894366(T;T)
Reference	Rs104894366(C;C)
Significance	Pathogenic
Disease	Noonan syndrome not provided Rasopathy Cardiofaciocutaneous syndrome 2
Variation	info
Gene	KRAS
CLNDBN	Noonan syndrome not provided Rasopathy Cardiofaciocutaneous syndrome 2
Reversed	1
HGVS	NC_000012.11:g.25398218G>A; NC_000012.11:g.25398218G>C
CLNSRC	UniProtKB (protein) OMIM Allelic Variant
CLNACC	RCV000150892.1, RCV000157668.2, RCV000232330.1, RCV000043674.24, RCV000207495.2, RCV000211723.1,